PNPLA2 mutations were associated with an extended phenotype, including brain involvement in cases of neutral lipid-storage disease with myopathy.

Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.

ANGPTL8 is a stress-response protein that down-regulates expression of ATGL.

Study reports the clinical and genetic findings of a neutral lipid storage disease with myopathy family of Italian origin with 3 affected siblings. to highlight the effect that different gene mutations may have on ATGLlipase (show LIPG Antibodies) activity, authors performed a functional characterization of the novel PNPLA2 missense mutations identified in their patients

PEDF (show SERPINF1 Antibodies) receptor is a transmembrane phospholipase that is required for the survival and antiapoptotic effects of PEDF (show SERPINF1 Antibodies) on retina cells. It has determinants for PEDF (show SERPINF1 Antibodies) binding within its L4 ectodomain that are critical for enzymatic stimulation.

transcriptional transactivation assays with a luciferase reporter system revealed that Fabps enhance the ability of Atgl/Cgi-58 (show ABHD5 Antibodies)-mediated lipolysis to induce the activity of peroxisome proliferator-activated receptors.